PHOCOMELIA IN THROMBOCYTOPENIA-ABSENT RADIUS (TAR) SYNDROME DUE TO COMPOUND HETEROZYGOSITY FOR A 1Q21.1 MICRODELETION AND A RBM8A HYPOMORPHIC ALLELE. REPORT OF TWO CASES.

被引：0
|
作者：
Jobling, Rebekah [1 ]
Unger, Sheila [2 ]
Shannon, Patrick [3 ]
Toi, Ants [4 ]
Keating, Sarah [3 ]
Chitayat, David [1 ,5 ]
机构：
[1] Hosp Sick Children, Dept Pediat, Div Clin & Metab Genet, Lausanne, Switzerland
[2] Hosp Sick Children, Dept Pediat, Div Mol Pediat, Maternite,Clin Infantile, Lausanne, Switzerland
[3] Univ Toronto, Mt Sinai Hosp, Dept Lab Med & Pathobiol, Toronto, ON M5G 1X5, Canada
[4] Univ Toronto, Mt Sinai Hosp, Dept Diagnost Imaging, Toronto, ON M5G 1X5, Canada
[5] Univ Toronto, Mt Sinai Hosp, Prenatal Diag & Med Genet Program, Toronto, ON M5G 1X5, Canada
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2015年 / 167卷 / 08期
关键词：
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：1704 / 1704
页数：1
相关论文
共 7 条
  • [1] Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: A case report
    Bottillo I.
    Castori M.
    De Bernardo C.
    Fabbri R.
    Grammatico B.
    Preziosi N.
    Scassellati G.S.
    Silvestri E.
    Spagnuolo A.
    Laino L.
    Grammatico P.
    BMC Research Notes, 6 (1)
  • [2] Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: a new familial case
    Tassano, Elisa
    Gimelli, Stefania
    Divizia, Maria Teresa
    Lerone, Margherita
    Vaccari, Carlotta
    Puliti, Aldamaria
    Gimelli, Giorgio
    MOLECULAR CYTOGENETICS, 2015, 8
  • [3] Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: a new familial case
    Elisa Tassano
    Stefania Gimelli
    Maria Teresa Divizia
    Margherita Lerone
    Carlotta Vaccari
    Aldamaria Puliti
    Giorgio Gimelli
    Molecular Cytogenetics, 8
  • [4] Thrombocytopenia-absent radius (TAR) syndrome: A clinical genetic series of 14 further cases. Impact of the associated 1q21.1 deletion on the genetic counselling
    Houeijeh, Ali
    Andrieux, Joris
    Saugier-Veber, Pascale
    David, Albert
    Goldenberg, Alice
    Bonneau, Dominique
    Fouassier, Marc
    Journel, Hubert
    Martinovic, Jelana
    Escande, Fabienne
    Devisme, Louise
    Bisiaux, Sophie
    Chaffiotte, Caroline
    Baux, Mathilde
    Kerckaert, Jean-Pierre
    Holder-Espinasse, Muriel
    Manouvrier-Hanu, Sylvie
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2011, 54 (05) : E471 - E477
  • [5] Effect of Single Nucleotide Polymorphism in the Gene RBM8A Together with the Microdeletion 1q21 in Thrombocytopenia-Absent Radii Syndrome
    Schulze, Harald
    Albers, Cornelis A.
    Strauss, Gabriele
    Fiedler, Janine
    Schmugge, Markus
    Ouwehand, Willem H.
    Freson, Kathleen
    Newbury-Ecob, Ruth
    Ghaevert, Cedric
    BLOOD, 2012, 120 (21)
  • [6] Langerhans cell histiocytosis in a pediatric patient with thrombocytopenia-absent radius syndrome and 1q21.1 deletion: case report and proposal of a rapid molecular diagnosis of 1q21.1 deletion
    Giordano, Paola
    Cecinati, Valerio
    Grassi, Massimo
    Giordani, Lucia
    De Mattia, Delia
    Santoro, Nicola
    IMMUNOPHARMACOLOGY AND IMMUNOTOXICOLOGY, 2011, 33 (04) : 754 - 758
  • [7] Impact of array comparative genomic hybridization-derived information on genetic Counseling demonstrated by prenatal diagnosis of the TAR (Thrombocytopenia-Absent-radius) syndrome-associated microdeletion 1q21.1
    Uhrig, Sabine
    Schlembach, Dietmar
    Waldispuehl-Geigl, Julie
    Schaffer, Werner
    Geigl, Jochen
    Klopocki, Eva
    Mundlos, Stefan
    Speicher, Michael R.
    AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 81 (04) : 866 - 868
1